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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

C7orf60 Gene

protein-coding   GIFtS: 39
GCID: GC07M112459

Chromosome 7 Open Reading Frame 60

  Search for C7orf60
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Chromosome 7 Open Reading Frame 601 2
Hypothetical Protein FLJ318181
Probable Methyltransferase BTM2 Homolog2
UPF0532 Protein C7orf602
EC 2.1.1.-3

External Ids:    HGNC: 264751   Entrez Gene: 1547432   Ensembl: ENSG000001646037   UniProtKB: Q1RMZ13   

Export aliases for C7orf60 gene to outside databases

Previous GC identifers: GC07M112247 GC07M106827


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for C7orf60 Gene: 
C7orf60 (chromosome 7 open reading frame 60) is a protein-coding gene.

UniProtKB/Swiss-Prot: BMT2_HUMAN, Q1RMZ1
Function: Probable S-adenosyl-L-methionine-dependent methyltransferase (By similarity)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.2  NT_007933.15  NT_079596.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C7orf60 gene promoter:
         Pax-5   CBF-C   SRY   CBF-A   CBF-B   Sox9   CP1A   CP1C   NF-Y   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidC7orf60 promoter sequence
   Search SABiosciences Chromatin IP Primers for C7orf60

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C7orf60


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7q31.1   Ensembl cytogenetic band:  7q31.1   HGNC cytogenetic band: 7q31.1

C7orf60 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C7orf60 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M112459:  view genomic region     (about GC identifiers)

Start:
112,459,202 bp from pter      End:
112,579,971 bp from pter
Size:
120,770 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 111,827,660-111,948,430     

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: BMT2_HUMAN, Q1RMZ1 (See protein sequence)
Recommended Name: Probable methyltransferase BTM2 homolog  
Size: 405 amino acids; 46324 Da
Sequence caution: Sequence=BAB71169.1; Type=Frameshift; Positions=259;
Secondary accessions: Q8N3D0 Q96MV7

Explore the universe of human proteins at neXtProt for C7orf60: NX_Q1RMZ1

Explore proteomics data for C7orf60 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q1RMZ1

  • C7orf60 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    C7orf60 Protein Expression
    REFSEQ proteins: NP_689769.2  
    ENSEMBL proteins: 
     ENSP00000297145   ENSP00000408654  

    Human Recombinant Protein Products for C7orf60: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR021867 DUF3321

    Graphical View of Domain Structure for InterPro Entry Q1RMZ1

    ProtoNet protein and cluster: Q1RMZ1

    UniProtKB/Swiss-Prot: BMT2_HUMAN, Q1RMZ1
    Similarity: Belongs to the BMT2 family


    C7orf60 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: BMT2_HUMAN, Q1RMZ1
    Function: Probable S-adenosyl-L-methionine-dependent methyltransferase (By similarity)

         Enzyme Number (IUBMB): EC 2.1.1.-1

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008168methyltransferase activity IEA--
         
    C7orf60 for ontologies           About GeneDecksing


    Animal Models:
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for C7orf60 
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    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidC7orf60 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C7orf60


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for C7orf60

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for C7orf60 (BMT2)

    Search CenterWatch for drugs/clinical trials and news about C7orf60 / BMT2

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for C7orf60 gene: 
    NM_152556.2  

    Unigene Cluster for C7orf60:

    Chromosome 7 open reading frame 60
    Hs.489734  [show with all ESTs]
    Unigene Representative Sequence: NM_152556
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000297145(uc003vgo.1 uc011kms.1) ENST00000432572 ENST00000485446

    miRNA
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    8/128 QIAGEN miScript miRNA Assays for microRNAs that regulate C7orf60 (see all 128):
    hsa-miR-579 hsa-miR-100* hsa-miR-520f hsa-miR-106a hsa-miR-128 hsa-miR-519a hsa-miR-130b hsa-miR-520b
    SwitchGear 3'UTR luciferase reporter plasmidC7orf60 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for C7orf60
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat C7orf60
    Clone
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    OriGene ORF clones in mouse, rat for C7orf60
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    GenScript: all cDNA clones in your preferred vector: C7orf60 (NM_152556)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for C7orf60
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C7orf60
    Sirion Biotech Customized lentivirus for stable overexpression of C7orf60 
                         Customized lentivirus expression plasmids for stable overexpression of C7orf60 
    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat C7orf60
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C7orf60

    Additional mRNA sequence: 

    AF274937.1 AK056380.1 AK299901.1 AL834437.1 BC114615.1 

    2 DOTS entries:

    DT.441339  DT.121061662 

    24/51 AceView cDNA sequences (see all 51):

    CD721792 BM968362 BQ929682 CA413474 BX115096 AA359228 AI522064 AA495938 
    BG213749 AI288508 AI186040 AL834437 AI919081 BU677125 AK056380 AW136514 
    BM982524 AA495937 BE219945 BM476941 AW664222 AA463304 AI420395 AI097587 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    C7orf60 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGGTTTTACC
    C7orf60 Expression
    About this image


    See C7orf60 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for C7orf60

    SOURCE GeneReport for Unigene cluster: Hs.489734
        SABiosciences Custom PCR Arrays for C7orf60
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for C7orf60
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C7orf60
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C7orf60

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for C7orf60 gene from 6/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia B630005N14Rik1 , 5 RIKEN cDNA B630005N14 gene1, 5 89.5(n)1
    94.54(a)1
      6 (5.69 cM)5
    1011481  NM_175312.41  NP_780521.21 
     136256775 
    chicken
    (Gallus gallus)
    Aves C1H7orf601 chromosome 1 open reading frame, human C7orf60 82.86(n)
    90.96(a)
      417776  NM_001030734.1  NP_001025905.1 
    lizard
    (Anolis carolinensis)
    Reptilia C7orf606
    chromosome 7 open reading frame 60
    70(a)
    1 ↔ 1
    5(58592939-58621648)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.73722 Xenopus laevis transcribed sequences 78.89(n)    BX853378.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:1536061 zgc:153606 68.36(n)
    75.67(a)
      558558  NM_001077147.1  NP_001070615.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG35701 CG3570 42.62(n)
    35.5(a)
      37934  NM_138099.2  NP_611943.1 


    ENSEMBL Gene Tree for C7orf60 (if available)
    TreeFam Gene Tree for C7orf60 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1990 SNPs in C7orf60 are shown (see all 1990)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1871251561,2
    --112458754(+) CATGAA/GAGCAG 1 -- ds50010--------
    rs1510412421,2
    C--112458834(+) TAATA-/AACAACAA 1 -- cds10--------
    rs345163771,2
    C--112458836(+) AACAA-/CAAAAAAC 1 -- cds10--------
    rs2008723711,2
    C--112458849(-) GGTTTG/TTTGTT 1 -- ds50010--------
    rs1916474821,2
    --112458917(+) TACTTA/TAAAAA 1 -- ds50010--------
    rs794034461,2
    C,F--112458999(+) CATGAC/TAAAAC 1 -- ds50012Minor allele frequency- T:0.08CSA WA 120
    rs1830520521,2
    C--112459144(+) AATCAC/TTTAGT 1 -- ds50010--------
    rs1445106521,2
    --112459163(+) TCAAAG/TACCAC 1 -- ds50010--------
    rs1885586141,2
    --112459336(+) TCTAGC/TCATGA 1 -- ut310--------
    rs98101,2
    C--112459465(+) ATTCTT/CAGGAG 1 -- ut31 ese33Minor allele frequency- C:0.00MN NA 188

    HapMap Linkage Disequilibrium report for C7orf60 (112459202 - 112579971 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/16 variations for C7orf60 (see all 16):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2421832CNV Deletion20811451
    esv2735042CNV Deletion23290073
    esv2665494CNV Deletion23128226
    esv2735043CNV Deletion23290073
    esv2422365CNV Duplication17116639
    nsv499470CNV Loss21111241
    nsv5905CNV Loss18451855
    nsv514443CNV Loss21397061
    dgv1129n67CNV Loss20364138
    nsv483110CNV Loss15286789

    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing C7orf60
    DNA2.0 Custom Variant and Variant Library Synthesis for C7orf60

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    C7orf60 for disorders           About MalaCards

    C7orf60 for disorders           About GeneDecksing

    Genetic Association Database (GAD): C7orf60
    Human Genome Epidemiology (HuGE) Navigator: C7orf60 (1 document)

    Export disorders for C7orf60 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for C7orf60 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with C7orf60)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    2. Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study. (PubMed id 18951430)1, 4 Anney R.J....Gill M. (2008)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    7. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 154743 HGNC: 26475 AceView: FLJ31818 Ensembl:ENSG00000164603 euGenes: HUgn154743
    ECgene: C7orf60 H-InvDB: C7orf60

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for C7orf60 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for C7orf60 gene:
    Search GeneIP for patents involving C7orf60

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    (GIFtS: 73)
    transforming growth factor, beta 1
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